{
    "disease_id": "DOID:0112054",
    "recommended_name": {
        "id": "DOID:0112054",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112054",
        "name": "non-syndromic X-linked intellectual disability 107",
        "description": "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0112054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112054",
            "name": "MRX107",
            "description": ""
        },
        {
            "id": "DOID:0112054",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112054",
            "name": "X-linked mental retardation 107",
            "description": ""
        },
        {
            "id": "MONDO:0049222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0049222",
            "name": "intellectual disability, X-linked 107",
            "description": ""
        },
        {
            "id": "MONDO:0049222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0049222",
            "name": "intellectual developmental disorder, X-linked 107",
            "description": ""
        },
        {
            "id": "MONDO:0049222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0049222",
            "name": "intellectual disability, X-linked 107",
            "description": ""
        },
        {
            "id": "MONDO:0049222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0049222",
            "name": "MRX107",
            "description": ""
        },
        {
            "id": "MONDO:0049222",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0049222",
            "name": "mental retardation, X-linked 107",
            "description": ""
        },
        {
            "id": "MIM:301013",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301013",
            "name": "Intellectual developmental disorder, X-linked 107",
            "description": "Intellectual developmental disorder, X-linked 107"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112054"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112054",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112054",
            "categories": []
        },
        {
            "id": "MONDO:0049222",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0049222",
            "categories": []
        },
        {
            "id": "MIM:301013",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301013",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66I61-1",
            "uniprot_ac": "Q66I61",
            "uniprot_id": "STEEP_DANRE",
            "refseq_ac": "NP_001004659",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "STING ER exit protein",
                    "type": "recommended"
                },
                {
                    "name": "STEEP",
                    "type": "synonym"
                },
                {
                    "name": "STING ER exit protein",
                    "type": "synonym"
                },
                {
                    "name": "UPF0428 protein CXorf56 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "steep1",
                    "type": "recommended"
                },
                {
                    "name": "STEEP",
                    "type": "synonym"
                },
                {
                    "name": "steep1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103697",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66I61-1",
            "evidence": [
                {
                    "id": "0112054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDP2-1",
            "uniprot_ac": "Q8VDP2",
            "uniprot_id": "STEEP_MOUSE",
            "refseq_ac": "NP_084227",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "STING ER exit protein",
                    "type": "recommended"
                },
                {
                    "name": "STEEP",
                    "type": "synonym"
                },
                {
                    "name": "STING ER exit protein",
                    "type": "synonym"
                },
                {
                    "name": "UPF0428 protein CXorf56 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Steep1",
                    "type": "recommended"
                },
                {
                    "name": "C330007P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "STEEP",
                    "type": "synonym"
                },
                {
                    "name": "Steep1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDP2-1",
            "evidence": [
                {
                    "id": "0112054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H5V9-1",
            "uniprot_ac": "Q9H5V9",
            "uniprot_id": "STEEP_HUMAN",
            "refseq_ac": "NP_001164040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "STING ER exit protein",
                    "type": "recommended"
                },
                {
                    "name": "STEEP",
                    "type": "synonym"
                },
                {
                    "name": "STING ER exit protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "STING ER exit protein",
                    "type": "synonym"
                },
                {
                    "name": "UPF0428 protein CXorf56",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STEEP1",
                    "type": "recommended"
                },
                {
                    "name": "CXorf56",
                    "type": "synonym"
                },
                {
                    "name": "MRX107",
                    "type": "synonym"
                },
                {
                    "name": "STEEP1",
                    "type": "synonym"
                },
                {
                    "name": "STEEP",
                    "type": "synonym"
                },
                {
                    "name": "XLID107",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H5V9-1",
            "evidence": [
                {
                    "id": "301013",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301013"
                },
                {
                    "id": "0112054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A067-1",
            "uniprot_ac": "D4A067",
            "uniprot_id": "D4A067_RAT",
            "refseq_ac": "NP_001101420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "STING ER exit protein",
                    "type": "recommended"
                },
                {
                    "name": "STING ER exit protein",
                    "type": "synonym"
                },
                {
                    "name": "UPF0428 protein CXorf56 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Steep1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1564541",
                    "type": "synonym"
                },
                {
                    "name": "Steep1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A067-1",
            "evidence": [
                {
                    "id": "0112054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112054"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V412-1",
            "uniprot_ac": "Q9V412",
            "uniprot_id": "STEEP_DROME",
            "refseq_ac": "NP_001260451",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "STING ER exit protein",
                    "type": "recommended"
                },
                {
                    "name": "CG16865-PB",
                    "type": "synonym"
                },
                {
                    "name": "STEEP",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BG:DS00941.3",
                    "type": "recommended"
                },
                {
                    "name": "Steep1",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS00941.3",
                    "type": "synonym"
                },
                {
                    "name": "CG16865",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16865",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16865",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V412-1",
            "evidence": [
                {
                    "id": "0112054",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112054"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112054"
}